Incidental Mutation 'IGL02881:Noxo1'
| ID |
362800 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Noxo1
|
| Ensembl Gene |
ENSMUSG00000019320 |
| Gene Name |
NADPH oxidase organizer 1 |
| Synonyms |
2310034C04Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
IGL02881
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
24915208-24919503 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 24918409 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 190
(L190I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019464
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019464]
[ENSMUST00000046839]
[ENSMUST00000126319]
|
| AlphaFold |
Q8VCM2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000019464
AA Change: L190I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000019464
Gene: ENSMUSG00000019320
AA Change: L190I
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
6 |
122 |
1.36e-2 |
SMART |
|
SH3
|
160 |
218 |
1.55e0 |
SMART |
|
SH3
|
234 |
289 |
1.8e-9 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000046534
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046839
|
| SMART Domains |
Protein: ENSMUSP00000049186
Gene: ENSMUSG00000040888
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
47 |
N/A |
INTRINSIC |
|
low complexity region
|
48 |
54 |
N/A |
INTRINSIC |
|
Pfam:Evr1_Alr
|
97 |
189 |
2.6e-31 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123026
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124864
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126319
|
| SMART Domains |
Protein: ENSMUSP00000120911
Gene: ENSMUSG00000040688
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
54 |
94 |
3.08e0 |
SMART |
|
WD40
|
97 |
137 |
2.38e-6 |
SMART |
|
WD40
|
140 |
181 |
3.85e-1 |
SMART |
|
WD40
|
184 |
223 |
6.94e-8 |
SMART |
|
WD40
|
237 |
275 |
7.36e1 |
SMART |
|
WD40
|
278 |
320 |
3.07e1 |
SMART |
|
WD40
|
323 |
363 |
1.78e0 |
SMART |
|
WD40
|
365 |
404 |
1.17e-5 |
SMART |
|
WD40
|
410 |
450 |
8.16e-5 |
SMART |
|
WD40
|
468 |
507 |
5.18e-7 |
SMART |
|
WD40
|
510 |
549 |
8.1e-9 |
SMART |
|
WD40
|
552 |
591 |
8.55e-8 |
SMART |
|
WD40
|
594 |
633 |
2.93e-6 |
SMART |
|
low complexity region
|
637 |
650 |
N/A |
INTRINSIC |
|
Pfam:Utp13
|
654 |
788 |
3.7e-43 |
PFAM |
|
low complexity region
|
792 |
800 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126342
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150132
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150313
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152527
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149326
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141095
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141522
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130633
|
| SMART Domains |
Protein: ENSMUSP00000117818
Gene: ENSMUSG00000040688
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
2 |
38 |
8.75e-5 |
SMART |
|
WD40
|
41 |
80 |
8.1e-9 |
SMART |
|
WD40
|
90 |
129 |
9.52e-6 |
SMART |
|
WD40
|
132 |
171 |
2.93e-6 |
SMART |
|
low complexity region
|
175 |
188 |
N/A |
INTRINSIC |
|
Pfam:Utp13
|
192 |
299 |
1e-30 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an NADPH oxidase (NOX) organizer, which positively regulates NOX1 and NOX3. The protein contains a PX domain and two SH3 domains. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2012]
PHENOTYPE: Mutations at this locus affect the inner ear and result in vestibular related movement anomalies. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700029H14Rik |
C |
A |
8: 13,605,999 (GRCm39) |
|
probably benign |
Het |
| Aatf |
A |
G |
11: 84,362,115 (GRCm39) |
|
probably benign |
Het |
| Asap3 |
A |
T |
4: 135,966,548 (GRCm39) |
H542L |
probably benign |
Het |
| Cyp4v3 |
A |
T |
8: 45,761,753 (GRCm39) |
L389H |
probably damaging |
Het |
| Dnah17 |
C |
T |
11: 117,932,944 (GRCm39) |
E3605K |
probably damaging |
Het |
| Fry |
C |
T |
5: 150,282,516 (GRCm39) |
T347M |
probably damaging |
Het |
| Glul |
C |
A |
1: 153,782,862 (GRCm39) |
T191K |
probably benign |
Het |
| Grsf1 |
A |
T |
5: 88,821,689 (GRCm39) |
L125Q |
probably damaging |
Het |
| Hfm1 |
A |
G |
5: 107,022,118 (GRCm39) |
I976T |
probably damaging |
Het |
| Itgb5 |
A |
G |
16: 33,740,275 (GRCm39) |
T462A |
probably benign |
Het |
| Lmna |
G |
T |
3: 88,410,233 (GRCm39) |
R60S |
possibly damaging |
Het |
| Mrpl10 |
T |
A |
11: 96,937,899 (GRCm39) |
V89D |
probably damaging |
Het |
| Muc5b |
C |
T |
7: 141,411,449 (GRCm39) |
T1465I |
unknown |
Het |
| Myh15 |
A |
C |
16: 48,937,628 (GRCm39) |
D743A |
possibly damaging |
Het |
| Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
| Or2aj5 |
A |
T |
16: 19,425,050 (GRCm39) |
Y123N |
probably damaging |
Het |
| Or4c121 |
T |
A |
2: 89,023,985 (GRCm39) |
Y131F |
probably damaging |
Het |
| Or5m13 |
A |
G |
2: 85,748,460 (GRCm39) |
S64G |
probably benign |
Het |
| Or8h8 |
A |
G |
2: 86,753,057 (GRCm39) |
V273A |
possibly damaging |
Het |
| Pfkfb4 |
A |
G |
9: 108,836,364 (GRCm39) |
T131A |
probably null |
Het |
| Phf20l1 |
T |
C |
15: 66,466,829 (GRCm39) |
|
probably null |
Het |
| Pnliprp2 |
A |
G |
19: 58,759,878 (GRCm39) |
D363G |
probably benign |
Het |
| Prpf6 |
C |
T |
2: 181,273,864 (GRCm39) |
T336I |
probably benign |
Het |
| Rcc1 |
C |
T |
4: 132,065,067 (GRCm39) |
R139H |
probably benign |
Het |
| Sae1 |
T |
G |
7: 16,093,043 (GRCm39) |
K221N |
probably damaging |
Het |
| Slc45a1 |
T |
C |
4: 150,722,987 (GRCm39) |
K299R |
probably benign |
Het |
| Slco1a8 |
T |
C |
6: 141,917,969 (GRCm39) |
R636G |
probably benign |
Het |
| Smad2 |
C |
A |
18: 76,432,851 (GRCm39) |
|
probably null |
Het |
| Tmem117 |
T |
C |
15: 94,777,306 (GRCm39) |
F152S |
probably damaging |
Het |
| Tmem232 |
C |
T |
17: 65,757,365 (GRCm39) |
C276Y |
probably damaging |
Het |
| Tor1b |
A |
T |
2: 30,843,865 (GRCm39) |
K47* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,740,147 (GRCm39) |
V3464A |
probably benign |
Het |
| Ube3b |
A |
G |
5: 114,550,945 (GRCm39) |
T870A |
possibly damaging |
Het |
| Zscan25 |
T |
G |
5: 145,227,296 (GRCm39) |
L320R |
probably benign |
Het |
|
| Other mutations in Noxo1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00402:Noxo1
|
APN |
17 |
24,917,910 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02441:Noxo1
|
APN |
17 |
24,918,030 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02549:Noxo1
|
APN |
17 |
24,919,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02881:Noxo1
|
APN |
17 |
24,918,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
fabregas
|
UTSW |
17 |
24,918,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0276:Noxo1
|
UTSW |
17 |
24,919,136 (GRCm39) |
splice site |
probably null |
|
|
R4326:Noxo1
|
UTSW |
17 |
24,917,937 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5080:Noxo1
|
UTSW |
17 |
24,918,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5487:Noxo1
|
UTSW |
17 |
24,917,291 (GRCm39) |
unclassified |
probably benign |
|
|
R5854:Noxo1
|
UTSW |
17 |
24,917,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6119:Noxo1
|
UTSW |
17 |
24,915,545 (GRCm39) |
unclassified |
probably benign |
|
|
R7889:Noxo1
|
UTSW |
17 |
24,918,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9224:Noxo1
|
UTSW |
17 |
24,919,305 (GRCm39) |
missense |
probably benign |
|
|
R9765:Noxo1
|
UTSW |
17 |
24,915,386 (GRCm39) |
unclassified |
probably benign |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation